A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647798



Internal ID7034537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41495748..41502928hg38UCSC Ensembl
Innerchr22:41495898..41502778hg38UCSC Ensembl
Outerchr22:41495598..41503078hg38UCSC Ensembl
chr22:41891752..41898932hg19UCSC Ensembl
Innerchr22:41891902..41898782hg19UCSC Ensembl
Outerchr22:41891602..41899082hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg387181
hg197181
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16430128
SamplesHG02050
Known GenesACO2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647798
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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